Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 20 0.11 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 49 0.10 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 84 0.10 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 84 0.10 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 84 9.6E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 18 9.5E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 29 9.2E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 17 9.2E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 30 9.0E-02 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 29 9.0E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 24 8.9E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 49 8.9E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 47 8.8E-02 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 0 51 8.8E-02 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 0 21 8.7E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 42 8.7E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 45 8.4E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 46 8.3E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 33 8.3E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 50 8.3E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 50 8.1E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 51 8.0E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 38 7.9E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 26 7.9E-02 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 15 7.7E-02 0 0